Understanding HD
In order to generate new therapies for HD we aim to understand the mechanism of disease. To do this we are undertaking a series of research programmes.
HD genetic modifiers research group
Run by Lesley Jones, Peter Holmans and Tom Massey, this group is focussed on exploring the factors that contribute to delaying disease onset. These factors are both genetic and environmental.
The genetic factors can be identified using powerful techniques that explore the whole genome. This research has already provided new therapeutic targets, mainly in pathways that repair damage to, the DNA. Multiple companies including SV Health Investors through the Dementia Discovery Fund and Triplet Therapeutics are now actively exploring these new therapeutic targets with a view to delaying the onset of disease in people carrying the HD risk gene. We are interacting with some of those companies.
Additionally, we are exploring genetic factors underlying other HD symptoms, such as psychiatric problems (psychosis, apathy, depression, irritability) and cognitive impairment.
The Dion group
The Dion group is interested in gene editing and epigenome editing for expanded CAG/CTG repeats.
These unusual sequences cause 13 different neurological disorders, including Huntington's disease and myotonic dystrophy. They all remain without effective treatments.
We are looking for novel and innovative therapeutic avenues. In addition, we are developing new technologies to screen for factors that affect repeat size and novel methods to size expanded repeats to speed up pre-clinical studies and improve diagnosis.
Current studies
- Pilot investigation to characterise the in vitro and in vivo effects of FAN1 in Huntington’s disease.
- Integrating genetic and functional data to identify pathogenic pathways modifying the progression and phenotypic expression of Huntington's disease.
- MSH3: a disease modifying approach to Huntington’s disease. LoQus23 Therapeutics.